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Terminology chevron_right Concepts chevron_right 732951005

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Component

732951005

The component that hold information about this concept.

Fully Specified Name (FSN)

Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)

Shortest Term

Mitochondrial myopathy, lactic acidosis, deafness syndrome

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)

SCTID: 732951005, Primitive, Active

732951005|Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)|

en Mitochondrial myopathy, lactic acidosis, deafness syndrome
en Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)
en Mitochondrial myopathy, lactic acidosis, hearing loss syndrome

Expression

732951005 |Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)|
 <<< 16851005 |Mitochondrial myopathy (disorder)| + 
60700002 |Sensorineural hearing loss (disorder)| + 
91273001 |Lactic acidosis (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3498427016 - Mitochondrial myopathy, lactic acidosis, deafness syndrome (en) View
3498427016	en	Synonym (core metadata concept)	Mitochondrial myopathy, lactic acidosis, deafness syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498429018 - Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder) (en) View
3498429018	en	Fully specified name (core metadata concept)	Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498428014 - Mitochondrial myopathy, lactic acidosis, hearing loss syndrome (en) View
3498428014	en	Synonym (core metadata concept)	Mitochondrial myopathy, lactic acidosis, hearing loss syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6971571026) - 732951005 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6971574023) - 732951005 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6971576020) - 732951005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6971577027) - 732951005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14015500022) - 732951005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015501021) - 732951005 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015502025) - 732951005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971573028) - 732951005 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12092384022) - 732951005 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971575024) - 732951005 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6971568023) - 732951005 -> 16851005 (116680003) View
116680003 \|Is a (attribute)\|	16851005 \|Mitochondrial myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971569026) - 732951005 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971570025) - 732951005 -> 91273001 (116680003) View
116680003 \|Is a (attribute)\|	91273001 \|Lactic acidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971572022) - 732951005 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
16851005 View
16851005	Mitochondrial myopathy (disorder)	Ragged red myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
60700002 View
60700002	Sensorineural hearing loss (disorder)	Mất thính giác	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
91273001 View
91273001	Lactic acidosis (disorder)	Lactic acidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
232333009 View
232333009	Hearing loss associated with syndrome (disorder)	Syndromal deafness	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (a2c71dc2-9ba5-5aa3-8e53-307a74bf2141) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H90.5	TRUE	ALWAYS H90.5	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (c0a214b0-4d63-59b2-8c42-49e284aed5bb) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E87.2	TRUE	ALWAYS E87.2	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (ea50a74b-df41-5504-bad2-5932164ed75c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.3	TRUE	ALWAYS G71.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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